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Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder caused by mutations in the TSC1 or TSC2 gene. The a...
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
ATPase, class 1, type 8 A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation ac...
The role of gut-derived short-chain fatty acids in Parkinson's disease
The role of gut-derived short-chain fatty acids in Parkinson's disease
The emerging function of short-chain fatty acids (SCFAs) in Parkinson's disease (PD) has been investigated in this art...
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India
Congenital Muscular Dystrophies (CMD) are phenotypically and genotypically heterogenous disorders with a prevalence of 0.6...
Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs)
Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs)
The human genome, comprising millions of pairs of bases, serves as the blueprint of life, encoding instructions for cellul...
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy
GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant ...
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns
FARIMPD (Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies) syndrome is a sev...
The Apo gene's genetic variants: hidden role in Asian vascular risk
The Apo gene's genetic variants: hidden role in Asian vascular risk
Vascular risk factors, including diabetes, hypertension, hyperlipidemia, and obesity, pose significant health threats with...
Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability
Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability
Primary microcephaly is a rare neurogenic and genetically heterogeneous disorder characterized by significant brain size r...
Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis
Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis
Multiple sclerosis (MS), an intricate neurological disorder, continues to challenge our understanding of the pivotal inter...
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
We present an in-depth clinical and neuroimaging analysis of a family carrying the MAPT K298E mutation associated with fro...
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised...
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
Neuromuscular disorders (NMDs) include a wide range of diseases affecting the peripheral nervous system. The genetic diagn...
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
Aminoacyl-tRNA synthetases (ARSs) aminoacylate tRNA molecules with their cognate amino acid, enabling information transmis...
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
Developmental and epileptic encephalopathy (DEEs) (OMIM#618,328) is characterized by seizures, hypotonia, and brain abnorm...
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive allelic muscle diseases cause...
Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance
Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance
Glioma, a type of brain tumor, poses significant challenges due to its heterogeneous nature and limited treatment options....
A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders – a systematic review
A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders – a systematic review
The debate surrounding nature versus nurture remains a central question in neuroscience, psychology, and in psychiatry, ho...
TREK-1 channel as a therapeutic target for dexmedetomidine-mediated neuroprotection in cerebral ischemia
TREK-1 channel as a therapeutic target for dexmedetomidine-mediated neuroprotection in cerebral ischemia
Our objective is to explore the protective effect of Dexmedetomidine on brain apoptosis and its mechanism through TREK-1 p...
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with considerable genetic heterogeneity. The diso...
Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin
Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin
The ethnic diversity of India provides a unique opportunity to study the history of the origin of mutations of genetic dis...
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy
Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-R...
Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
Neuronal ceroid lipofuscinosis (NCL) is an umbrella term referring to the most frequent childhood-onset neurodegenerative ...
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship
Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (A...
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
Glucose transporter type 1 deficiency syndrome (GLUT-1DS) is characterized by alterations in glucose translocation through...
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Narcolepsy with cataplexy is a complex disease with both genetic and environmental risk factors. To gain further insight i...
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Disease-causing variants in HEPACAM are associated with megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC...
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
Biallelic variants of 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) gene have been linked to neurodegenerative disorders...
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and mot...
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper mo...
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